Linked Data
gnomAD v4:
8-96145138-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145138A>G , CM000670.2:g.96145138A>G | GRCh38 |
| NC_000008.10:g.97157366A>G , CM000670.1:g.97157366A>G | GRCh37 |
| NC_000008.9:g.97226542A>G | NCBI36 |
| NG_008981.1:g.20655T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.793T>C MANE Select | ENSP00000287020.4:p.Phe265Leu | |
| ENST00000287020.6:c.793T>C | ENSP00000287020.4:p.Phe265Leu | |
| ENST00000620978.1:c.731T>C | ENSP00000480170.1:p.Leu244Pro | |
| ENST00000621429.1:c.793T>C | ENSP00000483711.1:p.Phe265Leu | |
| NM_001001557.2:c.793T>C | NP_001001557.1:p.Phe265Leu | |
| XM_011517030.1:c.394T>C | XP_011515332.1:p.Phe132Leu | |
| NM_001001557.3:c.793T>C | NP_001001557.1:p.Phe265Leu | |
| NM_001001557.4:c.793T>C MANE Select | NP_001001557.1:p.Phe265Leu |